AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
about
TCTN3 mutations cause Mohr-Majewski syndromeMutation of POC1B in a severe syndromic retinal ciliopathySpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisBBS mutations modify phenotypic expression of CEP290-related ciliopathiesThe Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactionsThe role of primary cilia in the development and disease of the retinaThe base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalizationCilia in vertebrate development and diseaseCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesDNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary DyskinesiaTyro3 Modulates Mertk-Associated Retinal DegenerationConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeMouse models of ciliopathies: the state of the art.A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.Nephronophthisis and related syndromesApplications of phototransformable fluorescent proteins for tracking the dynamics of cellular componentsMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentNeuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype.Knockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafishLoss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiationPharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection abilityNeural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disordersIdentification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome SequencingAHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders.Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyAlterations in the expression of a neurodevelopmental gene exert long-lasting effects on cognitive-emotional phenotypes and functional brain networks: translational evidence from the stress-resilient Ahi1 knockout mouse.The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.Ciliopathies: the trafficking connection.Modifier genes and the plasticity of genetic networks in mice.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Dysfunction of heterotrimeric kinesin-2 in rod photoreceptor cells and the role of opsin mislocalization in rapid cell death.TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.A QTL on chromosome 10 modulates cone photoreceptor number in the mouse retina.Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
P2860
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P2860
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
description
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2010
@ast
im Februar 2010 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2010/02/01)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/02/01)
@nl
наукова стаття, опублікована в лютому 2010
@uk
name
AHI1 is required for photorece ...... generation in nephronophthisis
@ast
AHI1 is required for photorece ...... generation in nephronophthisis
@en
AHI1 is required for photorece ...... generation in nephronophthisis
@nl
type
label
AHI1 is required for photorece ...... generation in nephronophthisis
@ast
AHI1 is required for photorece ...... generation in nephronophthisis
@en
AHI1 is required for photorece ...... generation in nephronophthisis
@nl
prefLabel
AHI1 is required for photorece ...... generation in nephronophthisis
@ast
AHI1 is required for photorece ...... generation in nephronophthisis
@en
AHI1 is required for photorece ...... generation in nephronophthisis
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
AHI1 is required for photorece ...... generation in nephronophthisis
@en
P2093
Andreas Kispert
Andrew M. Schlossman
Anneke I. den Hollander
Carrie M. Louie
David S. Williams
Elena Vallespin
Francesco Brancati
Frans P. M. Cremers
Harini V. Gudiseva
Irma Lopez
P2860
P2888
P304
P3181
P356
10.1038/NG.519
P407
P50
P577
2010-02-01T00:00:00Z